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Sufu SUFU negative regulator of hedgehog signaling [ Mus musculus (house mouse) ]

Gene ID: 24069, updated on 2-Nov-2024

Summary

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Official Symbol
Sufuprovided by MGI
Official Full Name
SUFU negative regulator of hedgehog signalingprovided by MGI
Primary source
MGI:MGI:1345643
See related
Ensembl:ENSMUSG00000025231 AllianceGenome:MGI:1345643
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Su(fu)
Summary
Enables beta-catenin binding activity. Involved in negative regulation of smoothened signaling pathway. Acts upstream of with a negative effect on smoothened signaling pathway. Acts upstream of or within several processes, including circulatory system development; regulation of DNA-templated transcription; and smoothened signaling pathway involved in ventral spinal cord patterning. Located in cilium; cytoplasm; and nucleus. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; sensory organ; and testis. Used to study nevoid basal cell carcinoma syndrome. Human ortholog(s) of this gene implicated in Joubert syndrome 32; familial meningioma; medulloblastoma; and nevoid basal cell carcinoma syndrome 2. Orthologous to human SUFU (SUFU negative regulator of hedgehog signaling). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis adult (RPKM 35.4), kidney adult (RPKM 13.3) and 26 other tissues See more
Orthologs
human all
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Genomic context

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See Sufu in Genome Data Viewer
Location:
19 C3; 19 38.85 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (46385335..46477243)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (46396896..46488804)

Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene major facilitator superfamily domain containing 13a Neighboring gene predicted gene, 24610 Neighboring gene ARP1 actin-related protein 1A, centractin alpha Neighboring gene STARR-positive B cell enhancer ABC_E3253 Neighboring gene STARR-positive B cell enhancer ABC_E7668 Neighboring gene STARR-positive B cell enhancer ABC_E1528 Neighboring gene STARR-positive B cell enhancer ABC_E4288 Neighboring gene STARR-positive B cell enhancer ABC_E5708 Neighboring gene STARR-seq mESC enhancer starr_46309 Neighboring gene STARR-positive B cell enhancer ABC_E268 Neighboring gene STARR-seq mESC enhancer starr_46312 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:46592537-46592738 Neighboring gene tripartite motif-containing 8 Neighboring gene STARR-seq mESC enhancer starr_46316 Neighboring gene ADP-ribosylation factor-like 3 Neighboring gene STARR-positive B cell enhancer ABC_E8752 Neighboring gene STARR-positive B cell enhancer mm9_chr19:46647489-46647790

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3. Grimm T, et al. FEBS Lett, 2001 Sep 7. PMID 11557033
  2. Suppressor of Fused inhibits mammalian Hedgehog signaling in the absence of cilia. Jia J, et al. Dev Biol, 2009 Jun 15. PMID 19371734, Free PMC Article
  3. Variations in Hedgehog signaling: divergence and perpetuation in Sufu regulation of Gli. Ruel L, et al. Genes Dev, 2009 Aug 15. PMID 19684109, Free PMC Article
  4. Inactivation of Sufu in cementoblasts accelerates external tooth root resorption. Choi H, et al. J Cell Physiol, 2023 Feb. PMID 36598878
  5. Suppressor of Fused Regulation of Hedgehog Signaling is Required for Proper Astrocyte Differentiation. Spice DM, et al. Stem Cells Dev, 2022 Dec. PMID 36103394

See all (130) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Increasing Sufu gene dosage reveals its unorthodox role in promoting polydactyly and medulloblastoma tumorigenesis.
    Title: Increasing Sufu gene dosage reveals its unorthodox role in promoting polydactyly and medulloblastoma tumorigenesis.
  2. Disrupting Hedgehog signaling in melanocytes by SUFU knockout leads to ocular melanocytosis and anterior segment malformation.
    Title: Disrupting Hedgehog signaling in melanocytes by SUFU knockout leads to ocular melanocytosis and anterior segment malformation.
  3. Inactivation of Sufu in cementoblasts accelerates external tooth root resorption.
    Title: Inactivation of Sufu in cementoblasts accelerates external tooth root resorption.
  4. Suppressor of Fused Regulation of Hedgehog Signaling is Required for Proper Astrocyte Differentiation.
    Title: Suppressor of Fused Regulation of Hedgehog Signaling is Required for Proper Astrocyte Differentiation.
  5. Sufu negatively regulates both initiations of centrosome duplication and DNA replication.
    Title: Sufu negatively regulates both initiations of centrosome duplication and DNA replication.
  6. PRMT7 methylates and suppresses GLI2 binding to SUFU thereby promoting its activation.
    Title: PRMT7 methylates and suppresses GLI2 binding to SUFU thereby promoting its activation.
  7. The Neocortical Progenitor Specification Program Is Established through Combined Modulation of SHH and FGF Signaling.
    Title: The Neocortical Progenitor Specification Program Is Established through Combined Modulation of SHH and FGF Signaling.
  8. Suppressor of Fused Inhibits Skin Wound Healing.
    Title: Suppressor of Fused Inhibits Skin Wound Healing.
  9. Sufu regulates cerebellar Shh-Gli signaling, postnatal granule cell progenitors proliferation and timing of cell cycle exit.
    Title: Suppressor of fused controls cerebellum granule cell proliferation by suppressing Fgf8 and spatially regulating Gli proteins.
  10. Here, the authors show that Suppressor of Fused (Sufu) controls establishment of the quiescent NSC pool during mouse dentate gyrus (DG) development by regulating Sonic Hedgehog (Shh) signaling activity.
    Title: Suppressor of fused controls perinatal expansion and quiescence of future dentate adult neural stem cells.
Submit: New GeneRIF Correction See all GeneRIFs (50)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • b2b273Clo, 2810026F04Rik

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables beta-catenin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase binding IEA
Inferred from Electronic Annotation
more info
  
enables protein kinase binding ISO
Inferred from Sequence Orthology
more info
  
enables transcription factor binding ISO
Inferred from Sequence Orthology
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within aorta development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within coronary vasculature development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cytoplasmic sequestering of transcription factor IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within determination of left/right symmetry IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within heart looping IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of smoothened signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within negative regulation of smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of smoothened signaling pathway ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 PubMed 
acts_upstream_of_or_within negative regulation of ubiquitin-dependent protein catabolic process IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within neural tube closure IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of cellular response to drug IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within skin development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_negative_effect smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within smoothened signaling pathway involved in spinal cord motor neuron cell fate specification IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within smoothened signaling pathway involved in ventral spinal cord interneuron specification IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in spermatid development IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within spinal cord dorsal/ventral patterning IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within ventricular septum development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of GLI-SUFU complex ISO
Inferred from Sequence Orthology
more info
  
part_of GLI-SUFU complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cilium IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
suppressor of fused homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001025391.2 → NP_001020562.1  suppressor of fused homolog isoform 2

    See identical proteins and their annotated locations for NP_001020562.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AC114539, AJ308626, AK016976, BB732695, BC048168
    Consensus CDS
    CCDS29879.1
    UniProtKB/Swiss-Prot
    Q8C8B4, Q99JG0, Q9D521, Q9JLU1, Q9Z0P7
    UniProtKB/TrEMBL
    D3Z7B6
    Related
    ENSMUSP00000049109.7, ENSMUST00000039922.13
    Conserved Domains (2) summary
    pfam05076
    Location:68 → 240
    SUFU; Suppressor of fused protein (SUFU)
    pfam12470
    Location:253 → 473
    SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain

  2. NM_015752.3 → NP_056567.2  suppressor of fused homolog isoform 1

    See identical proteins and their annotated locations for NP_056567.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC114539, AJ308626, AK015885, AK016976, BB732695, BC048168
    Consensus CDS
    CCDS38008.1
    UniProtKB/TrEMBL
    D3Z7B6, Q3U0Z8
    Related
    ENSMUSP00000107498.3, ENSMUST00000111867.9
    Conserved Domains (2) summary
    pfam05076
    Location:68 → 240
    SUFU; Suppressor of fused protein (SUFU)
    pfam12470
    Location:254 → 474
    SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000085.7 Reference GRCm39 C57BL/6J

    Range
    46385335..46477243
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Z0P7.1 GenPept UniProtKB/Swiss-Prot:Q9Z0P7

Gene LinkOut

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